Canonical Allele Identifier: CA2695229826
Gene: KCNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49374409del , CM000682.2:g.49374409del GRCh38
NC_000020.10:g.47990946del , CM000682.1:g.47990946del GRCh37
NC_000020.9:g.47424353del NCBI36
NG_041781.1:g.113236del
NG_041781.2:g.113236del

Transcript Alleles

HGVS Amino-acid change
ENST00000371741.6:c.1151del MANE Select ENSP00000360806.3:p.Tyr384SerfsTer21
ENST00000635878.1:c.97-75026del ENSP00000489908.1:n.97-75026del
ENST00000637341.1:n.206+42385del
ENST00000371741.5:c.1151del ENSP00000360806.3:p.Tyr384SerfsTer21
ENST00000635465.1:c.1151del ENSP00000489193.1:p.Tyr384SerfsTer21
NM_004975.2:c.1151del NP_004966.1:p.Tyr384SerfsTer21
XM_006723784.2:c.1151del XP_006723847.1:p.Tyr384SerfsTer21
XM_011528799.1:c.1151del XP_011527101.1:p.Tyr384SerfsTer21
NM_004975.3:c.1151del NP_004966.1:p.Tyr384SerfsTer21
XM_006723784.3:c.1151del XP_006723847.1:p.Tyr384SerfsTer21
XM_011528799.2:c.1151del XP_011527101.1:p.Tyr384SerfsTer21
XR_001754659.1:n.156+42385del
NM_004975.4:c.1151del MANE Select NP_004966.1:p.Tyr384SerfsTer21